孤立性良性持续性蛋白尿与（立方体细胞素）变异体的新关联。
Isolated benign persistent proteinuria with novel association of (cubilin) variants.
作者信息
Shi Vivian, Stein Quinn, Clark Dinah, Punj Sumit, Kremsdorf Robin, Faizan Mohammed
机构信息
Warren Alpert Medical School of Brown University Rhode Island Providence USA.
Department of Medicine, Rhode Island Hospital Rhode Island Providence USA.
出版信息
Clin Case Rep. 2023 Jun 12;11(6):e7502. doi: 10.1002/ccr3.7502. eCollection 2023 Jun.
Abstract
We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the gene. The -related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of status may allow for avoidance of invasive testing.
摘要
我们报告了两名患有持续性蛋白尿且肾功能正常的兄弟姐妹，他们在该基因中均携带相同的复合杂合变异。与该基因相关的表型似乎取决于变异类型和基因内的结构域位点。了解该基因状态可能有助于避免进行侵入性检测。
Zotero 插件